Major Quantitative Trait Locus for Resting Heart Rate Maps to a Region on Chromosome 4

• Published in: Hypertension (Dallas, Tex. 1979) Vol. 43; no. 5; pp. 1146 - 1151
• Main Authors: Martin, Lisa J, Comuzzie, Anthony G, Sonnenberg, Gabriele E, Myklebust, Joel, James, Roland, Marks, Jacqueline, Blangero, John, Kissebah, Ahmed H
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Heart Association, Inc 01.05.2004; Hagerstown, MD Lippincott
• Subjects: Animals; Ankyrins - genetics; Anthropometry; Arterial hypertension. Arterial hypotension; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Carrier Proteins - genetics; Chromosomes, Human, Pair 4 - genetics; Clinical manifestations. Epidemiology. Investigative techniques. Etiology; Cohort Studies; Europe - ethnology; European Continental Ancestry Group - genetics; Experimental diseases; Female; Heart Rate - genetics; Humans; Hypertension - epidemiology; Hypertension - genetics; Likelihood Functions; Lod Score; Male; Medical sciences; Middle Aged; Muscle Proteins - genetics; Quantitative Trait Loci - genetics; Rats; Risk Factors; Sex Factors; Triglycerides - blood; United States - epidemiology; United States; Europe; Human; Hypertension; Cartography; Rat; Rodentia; Cardiovascular disease; Chromosome; cardiovascular diseases; Medical screening; Heart rate; Vertebrata; Mammalia; Analysis method; genetics; Animal; Risk factor; Genetic linkage; pulse; Genome; Locus
• ISSN: 0194-911X; 1524-4563
• DOI: 10.1161/01.HYP.0000122873.42047.17

ABSTRACT—Multiple studies have identified resting heart rate as a risk factor for cardiovascular disease independent of other cardiovascular disease risk factors (such as dyslipidemia and hypertension). Previous studies have examined heart rate in hypertensive individuals, but little is known about the genetic determination of resting heart rate in a normal population. Therefore, our objective was to perform a genome screen on a population containing normotensive and hypertensive individuals. We performed variance decomposition linkage analysis using maximum likelihood methods at ≈10 cM intervals in 2209 individuals of predominantly North European ancestry. We estimated the heritability of resting heart rate to be 26% and obtained significant evidence of linkage (logarithm of the odds [LOD]=3.9) for resting heart rate on chromosome 4q. This signal is in the same region as a quantitative trait locus (QTL) for long QT syndrome 4 and a QTL for heart rate in rats. Within the 1-LOD unit support interval, there are 2 strong candidatesankyrin-B and myozenin 2.